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題名 | Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese=正常中國人甲基丙二酸輔酶A 變位酶基座之限制片段長度多態研究 |
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作者姓名(中文) | 王作仁; 侯家瑋; 蔡惠滿; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 31:5 民79.09-10 |
頁次 | 頁275-279 |
分類號 | 415.121 |
關鍵詞 | 中國人; 丙二酸輔酶A; 正常; 甲基; 限制; 基座; 變位酶; |
語文 | 英文(English) |
中文摘要 | 甲基丙二酸輔酶A變位酶(Methylmahonyl CoA mutase, MCM)是一種在一些支鏈胺基酸(branch-chain amino acids)及單數鏈脂肪酸(odd-chain fatty acids)降解過程(degradation)中不可或缺的酶類。缺乏此酶將引起甲基丙二酸血症(Methymalonic acidemia)、基臨床症狀爲反覆性的代謝性酸血症(metabolic acidosis)及明顯的陰離子差距(anion gap)增加,可導致嗜眠、抽搐甚至昏迷。吾等利用純系人類MCM互補去氧核糖核酸(cloned MCM26 cDNA)以λgt11爲戴體(vector),作Southern氏點漬(Southern blot)以分析此酶之基因組型。由14名正常且無血親關係之中國人,利用核酸內切酶(endonucleases)包括:EcoRⅠ,SacⅠ及HindⅢ來觀察其切出之限制部位(restriction sites)之多態(polymorphisms)。純系MCM26包括了3個EcoRⅠ內片段(internal EcoRⅠ fragments, a、b、c),其結果爲:使用MCM26b爲探針(probe)時,以EcoRⅠ可切出不變帶(invariant bands)於4.1,3.8及2.2kb;以SacⅠ切出之不變帶則位於17,8.0,6.0,3.6及1.8kb處,多形帶(polymorphic bands)則有5.6Kb一處;使用MCM26c爲探針時,以EcorRⅠ只見7.2Kb一處不變帶;而以HindⅢ切則有4.8及2.7Kb兩處,均無多形帶存在。吾等可利用EcoRⅠ處理後之MCM26內片段再以多種限制酶來做出限制片段長度多態(restriction fragment length polymorphisms, rflps)以分析有關MCM缺陷之家族,將可提高離合子(heterozygotes)或帶病者(carriers)及産前診斷(prenatal diagnosis)。 |
英文摘要 | L-methylmalonyl-CoA mutase (MCM, E.C. 5,4,99,2) is the apoenzyme for catalyzing the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Genetic deficiency of MCM leads to the accumulation of precursors and abnormal metabolites of L-methylmalonyl-CoA. This can be associated with fulminant metabolic acidosis widespread secondary aberrations in systemic metabolic homeostasis, mental retardation, or even neonatal death, This disorder is termed methylmalonic acidemia (MMA). This report, describes the use of an authentic, full-length cloned human cDNA probe, MCM26 kindly provided by Dr. Fred Ledley, for Southern blot analysis of genomic DNA. The pattern of EcoRⅠ, SacⅠ and Hind Ⅲ restriction endonuclease sites is reported from 14 unrelated control individuals of Chinese background. A Southern blot by EcoRⅠ to the MCM26b probe reveals invariant bands of 4.1, 3.8, and 2.2 kb respectively. By EcoRⅠ to the MCM26c probe 72 kb is invariant. By HindⅢ to the MCM26c probe, invariant bands are 4.8 and 2.7 kb respectively. By SacⅠ to the MCMb probe invariant bands are 17, 8.0, 6.0, 3.6 and 1.8 kb respectively, while the polymorphic band is at 5.6kb. When combined with more diverse samples and additional polymorphisms, this restriction fragment length polymorphism may be useful for genetic diagnostic and linkage studies of MCM in MMA. |
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